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@@ -57,7 +57,7 @@ The reference genome should be a single whole FASTA file containg all chromosome
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*`hg38/GRch38`: http://hgdownload.cse.ucsc.edu/goldenPath/hg38/bigZips/hg38.fa.gz Remember to decompress hg38.fa.gz since it is gzipped and is not supported currently.
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## Target file
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The target file is a bed file giving the MSI locuses. To add a MSI target locus at `chr:position`, you can add a row with values (chrom, position, name). You can see the example from targets/msi.bed:
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The target file is a TSV (tab-separated values) file giving the MSI locuses. To add a MSI target locus at `chr:position`, you can add a row with values (chrom, position, name). You can see the example from targets/msi.tsv:
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```TSV
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#CHROM POSITION NAME
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chr4 55598216 BAT25
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chr11 102193518 NR-27
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chr2 95849372 NR-24
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```
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Please note that this bed file is based on hg19 coordination.
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Please note that this file is based on hg19 coordination.
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# Reports
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VisualMSI reports results in HTML/JSON/TEXT formats, you can take a look at following examples:
@@ -91,7 +91,7 @@ VisualMSI reports results in HTML/JSON/TEXT formats, you can take a look at foll
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options:
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-i, --in input sorted bam/sam file for the case (tumor) sample. STDIN will be read from if it's not specified (string [=-])
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-n, --normal input sorted bam/sam file for the paired normal sample (tumor-normal mode). If not specified, VisualMSI will run in case-only mode. (string [=])
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-t, --target the bed file (chr, start, end, name) to give the MSI targets (string)
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-t, --target the TSV file (chr, start, end, name) to give the MSI targets (string)
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-r, --ref reference fasta file name (should be an uncompressed .fa/.fasta file) (string)
Copy file name to clipboardExpand all lines: src/main.cpp
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// input/output
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cmd.add<string>("in", 'i', "input sorted bam/sam file for the case (tumor) sample. STDIN will be read from if it's not specified", false, "-");
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cmd.add<string>("normal", 'n', "input sorted bam/sam file for the paired normal sample (tumor-normal mode). If not specified, VisualMSI will run in case-only mode.", false, "");
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cmd.add<string>("target", 't', "the bed file (chr, start, end, name) to give the MSI targets", true, "");
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cmd.add<string>("target", 't', "the TSV file (chrom, position, name) to give the MSI targets", true, "");
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cmd.add<string>("ref", 'r', "reference fasta file name (should be an uncompressed .fa/.fasta file)", true, "");
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